The mutations included a splice-site (c.958-2A>G) and a missense mutation (c.2342G>A; p.G781D), both being extremely rare. NPHP3 encodes for nephrocystin 3 present on the cilia-centrosome complex. We hypothesize that these mutations lead to defective cilia-based signaling, required for...
18 The pcy mouse, a spontaneous mouse mutant with renal cystic disease similar to human NPH, was shown to harbor a homozygous missense mutation in the orthologous Nphp3 gene. That this mouse model can be treated successfully with the vasopressin−2 receptor antagonist OPC31260 opens completely ...
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelial cells. Authors - Nele Schwarz View Article mouse IF Int J Mol Sci Ciliary Proteins Repurposed by the Synaptic Ribbon: Trafficking Myristoylated Proteins at Rod Photoreceptor Synapses. Authors ...
they may further expand the NPHP3 gene mutation spectrum.%目的 总结 2 例在婴幼儿期进展 为终末期肾病(ESRD)的 NPHP3 基因突变致肾单位肾痨(NPHP)患儿的临床特征及 基因突变的特点.方法 收集患儿的一般情况、肾活检、影像学、实验室检查和基因 测序结果,并行文献复习.结果 ①2 例均为男性,发病年龄 3 和...
Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation [J]. Am J Med Genet Part A. 2013;161(7):1743–9. https://doi.org/10.1002/ajmg.a.35958. 8. Neuhaus TJ, Sennhauser F, Briner J, et al. ...
In addition, we show that a homozygous missense mutation in Nphp3 is probably responsible for the polycystic kidney disease (pcy) mouse phenotype. Interventional studies in the pcy mouse have shown beneficial effects by modification of protein intake and administration of methylprednisolone, suggesting ...
Copelovitch L O'Brien MM Guttenberg M et al. Renal⁃ hepatic⁃pancreatic dysplasia a sibship with skeletal and central nervous system anomalies and NPHP3 mutation. Am J Med Genet A 2013 161A 7 1743⁃1749Copelovitch, L., O'Brien, M.M., Guttenberg, M., Otto, E.A., Kaplan, B....
In addition, we show that a homozygous missense mutation in Nphp3 is probably responsible for the polycystic kidney disease (pcy) mouse phenotype. Interventional studies in the pcy mouse have shown beneficial effects by modification of protein intake and administration of methylprednisolone, suggesting ...
Three patients carried only one heterozygous mutation in NPHP3. ESRD arose during the first 2 years of life in 16 of 18 patients with mutations in NPHP2, but in only two patients with mutations in NPHP3. Renal morphology, characterized by hyper-echogenic kidneys on ultrasound and tubular ...
High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. Nephrology (Carlton) 2016; 21:209-16.High mutation rate of NPHP3 in 18 C hinese infantile nephronophthisis patients[J] . Liangzhong Sun,Huajuan Tong,Haiyan Wang,Zhihui Yue,Ting Liu,Hongrong Lin,Jun Li,Changxi ...